Canonical Allele Identifier: CA2302977183
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058319C= , CM000680.2:g.51058319C= GRCh38
NC_000018.9:g.48584689C= , CM000680.1:g.48584689C= GRCh37
NC_000018.8:g.46838687C= NCBI36
NG_013013.2:g.95280C= , LRG_318:g.95280C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.788-21C= ENSP00000465878.2:n.788-21C=
ENST00000589076.6:c.788-21C= ENSP00000466934.2:n.788-21C=
ENST00000589941.2:c.788-21C= ENSP00000465874.2:n.788-21C=
ENST00000590061.2:c.788-21C= ENSP00000464772.2:n.788-21C=
ENST00000593223.2:c.788-21C= ENSP00000466118.2:n.788-21C=
ENST00000611848.2:c.788-21C= ENSP00000478613.2:n.788-21C=
ENST00000684953.1:n.2160-21C=
ENST00000685232.1:n.896-21C=
ENST00000688307.1:n.156-1547C=
ENST00000688574.1:n.896-21C=
ENST00000688903.1:n.1002-21C=
ENST00000690892.1:n.896-21C=
ENST00000342988.8:c.788-21C= MANE Select ENSP00000341551.3:n.788-21C=
ENST00000342988.7:c.788-21C= ENSP00000341551.3:n.788-21C=
ENST00000398417.6:c.788-21C= ENSP00000381452.1:n.788-21C=
ENST00000588745.5:c.667+3326C= ENSP00000464901.1:n.667+3326C=
ENST00000591126.5:n.2789-21C=
ENST00000592186.5:c.788-21C= ENSP00000468611.1:n.788-21C=
NM_005359.5:c.788-21C= , LRG_318t1:c.788-21C= NP_005350.1:n.788-21C=
NM_005359.6:c.788-21C= MANE Select NP_005350.1:n.788-21C=